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John E. Dick

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https://www.readbyqxmd.com/read/27851734/erratum-a-renewed-model-of-pancreatic-cancer-evolution-based-on-genomic-rearrangement-patterns
#1
Faiyaz Notta, Michelle Chan-Seng-Yue, Mathieu Lemire, Yilong Li, Gavin W Wilson, Ashton A Connor, Robert E Denroche, Sheng-Ben Liang, Andrew M K Brown, Jaeseung C Kim, Tao Wang, Jared T Simpson, Timothy Beck, Ayelet Borgida, Nicholas Buchner, Dianne Chadwick, Sara Hafezi-Bakhtiari, John E Dick, Lawrence Heisler, Michael A Hollingsworth, Emin Ibrahimov, Gun Ho Jang, Jeremy Johns, Lars G T Jorgensen, Calvin Law, Olga Ludkovski, Ilinca Lungu, Karen Ng, Danielle Pasternack, Gloria M Petersen, Liran I Shlush, Lee Timms, Ming-Sound Tsao, Julie M Wilson, Christina K Yung, George Zogopoulos, John M S Bartlett, Ludmil B Alexandrov, Francisco X Real, Sean P Cleary, Michael H Roehrl, John D McPherson, Lincoln D Stein, Thomas J Hudson, Peter J Campbell, Steven Gallinger
No abstract text is available yet for this article.
November 16, 2016: Nature
https://www.readbyqxmd.com/read/27807125/a-genetic-epidemiological-mega-analysis-of-smoking-initiation-in-adolescents
#2
Hermine H Maes, Elizabeth Prom-Wormley, Lindon J Eaves, Soo Hyun Rhee, John K Hewitt, Susan Young, Robin Corley, Matt McGue, William G Iacono, Lisa Legrand, Di Samek, E Lenn Murrelle, Judy L Silberg, Donna Miles, Richard M Schieken, Gaston P Beunen, Martine Thomis, Richard J Rose, Danielle M Dick, Dorret I Boomsma, Meike Bartels, Jacqueline M Vink, Paul Lichtenstein, Victoria White, Jaakko Kaprio, Michael C Neale
INTRODUCTION: Previous studies in adolescents were not adequately powered to accurately disentangle genetic and environmental influences on smoking initiation across adolescence. METHODS: Mega-analysis of pooled genetically informative data on smoking initiation was performed, with structural equation modeling, to test equality of prevalence and correlations across cultural backgrounds, and to estimate the significance and effect size of genetic and environmental effects according to the classical twin study, in adolescent male and female twins from same-sex and opposite-sex twin pairs (N=19 313 pairs) between age 10 and 19, with 76 358 longitudinal assessments between 1983 and 2007, from 11 population-based twin samples from the US, Europe and Australia RESULTS: Although prevalences differed between samples, twin correlations did not, suggesting similar etiology of smoking initiation across developed countries...
November 2, 2016: Nicotine & Tobacco Research: Official Journal of the Society for Research on Nicotine and Tobacco
https://www.readbyqxmd.com/read/27776115/deregulation-of-dux4-and-erg-in-acute-lymphoblastic-leukemia
#3
Jinghui Zhang, Kelly McCastlain, Hiroki Yoshihara, Beisi Xu, Yunchao Chang, Michelle L Churchman, Gang Wu, Yongjin Li, Lei Wei, Ilaria Iacobucci, Yu Liu, Chunxu Qu, Ji Wen, Michael Edmonson, Debbie Payne-Turner, Kerstin B Kaufmann, Shin-Ichiro Takayanagi, Erno Wienholds, Esmé Waanders, Panagiotis Ntziachristos, Sofia Bakogianni, Jingjing Wang, Iannis Aifantis, Kathryn G Roberts, Jing Ma, Guangchun Song, John Easton, Heather L Mulder, Xiang Chen, Scott Newman, Xiaotu Ma, Michael Rusch, Pankaj Gupta, Kristy Boggs, Bhavin Vadodaria, James Dalton, Yanling Liu, Marcus L Valentine, Li Ding, Charles Lu, Robert S Fulton, Lucinda Fulton, Yashodhan Tabib, Kerri Ochoa, Meenakshi Devidas, Deqing Pei, Cheng Cheng, Jun Yang, William E Evans, Mary V Relling, Ching-Hon Pui, Sima Jeha, Richard C Harvey, I-Ming L Chen, Cheryl L Willman, Guido Marcucci, Clara D Bloomfield, Jessica Kohlschmidt, Krzysztof Mrózek, Elisabeth Paietta, Martin S Tallman, Wendy Stock, Matthew C Foster, Janis Racevskis, Jacob M Rowe, Selina Luger, Steven M Kornblau, Sheila A Shurtleff, Susana C Raimondi, Elaine R Mardis, Richard K Wilson, John E Dick, Stephen P Hunger, Mignon L Loh, James R Downing, Charles G Mullighan
Chromosomal rearrangements deregulating hematopoietic transcription factors are common in acute lymphoblastic leukemia (ALL). Here we show that deregulation of the homeobox transcription factor gene DUX4 and the ETS transcription factor gene ERG is a hallmark of a subtype of B-progenitor ALL that comprises up to 7% of B-ALL. DUX4 rearrangement and overexpression was present in all cases and was accompanied by transcriptional deregulation of ERG, expression of a novel ERG isoform, ERGalt, and frequent ERG deletion...
October 24, 2016: Nature Genetics
https://www.readbyqxmd.com/read/27738994/human-subcortical-brain-asymmetries-in-15-847-people-worldwide-reveal-effects-of-age-and-sex
#4
Tulio Guadalupe, Samuel R Mathias, Theo G M vanErp, Christopher D Whelan, Marcel P Zwiers, Yoshinari Abe, Lucija Abramovic, Ingrid Agartz, Ole A Andreassen, Alejandro Arias-Vásquez, Benjamin S Aribisala, Nicola J Armstrong, Volker Arolt, Eric Artiges, Rosa Ayesa-Arriola, Vatche G Baboyan, Tobias Banaschewski, Gareth Barker, Mark E Bastin, Bernhard T Baune, John Blangero, Arun L W Bokde, Premika S W Boedhoe, Anushree Bose, Silvia Brem, Henry Brodaty, Uli Bromberg, Samantha Brooks, Christian Büchel, Jan Buitelaar, Vince D Calhoun, Dara M Cannon, Anna Cattrell, Yuqi Cheng, Patricia J Conrod, Annette Conzelmann, Aiden Corvin, Benedicto Crespo-Facorro, Fabrice Crivello, Udo Dannlowski, Greig I de Zubicaray, Sonja M C de Zwarte, Ian J Deary, Sylvane Desrivières, Nhat Trung Doan, Gary Donohoe, Erlend S Dørum, Stefan Ehrlich, Thomas Espeseth, Guillén Fernández, Herta Flor, Jean-Paul Fouche, Vincent Frouin, Masaki Fukunaga, Jürgen Gallinat, Hugh Garavan, Michael Gill, Andrea Gonzalez Suarez, Penny Gowland, Hans J Grabe, Dominik Grotegerd, Oliver Gruber, Saskia Hagenaars, Ryota Hashimoto, Tobias U Hauser, Andreas Heinz, Derrek P Hibar, Pieter J Hoekstra, Martine Hoogman, Fleur M Howells, Hao Hu, Hilleke E Hulshoff Pol, Chaim Huyser, Bernd Ittermann, Neda Jahanshad, Erik G Jönsson, Sarah Jurk, Rene S Kahn, Sinead Kelly, Bernd Kraemer, Harald Kugel, Jun Soo Kwon, Herve Lemaitre, Klaus-Peter Lesch, Christine Lochner, Michelle Luciano, Andre F Marquand, Nicholas G Martin, Ignacio Martínez-Zalacaín, Jean-Luc Martinot, David Mataix-Cols, Karen Mather, Colm McDonald, Katie L McMahon, Sarah E Medland, José M Menchón, Derek W Morris, Omar Mothersill, Susana Munoz Maniega, Benson Mwangi, Takashi Nakamae, Tomohiro Nakao, Janardhanan C Narayanaswaamy, Frauke Nees, Jan E Nordvik, A Marten H Onnink, Nils Opel, Roel Ophoff, Marie-Laure Paillère Martinot, Dimitri Papadopoulos Orfanos, Paul Pauli, Tomáš Paus, Luise Poustka, Janardhan Yc Reddy, Miguel E Renteria, Roberto Roiz-Santiáñez, Annerine Roos, Natalie A Royle, Perminder Sachdev, Pascual Sánchez-Juan, Lianne Schmaal, Gunter Schumann, Elena Shumskaya, Michael N Smolka, Jair C Soares, Carles Soriano-Mas, Dan J Stein, Lachlan T Strike, Roberto Toro, Jessica A Turner, Nathalie Tzourio-Mazoyer, Anne Uhlmann, Maria Valdés Hernández, Odile A van den Heuvel, Dennis van der Meer, Neeltje E M van Haren, Dick J Veltman, Ganesan Venkatasubramanian, Nora C Vetter, Daniella Vuletic, Susanne Walitza, Henrik Walter, Esther Walton, Zhen Wang, Joanna Wardlaw, Wei Wen, Lars T Westlye, Robert Whelan, Katharina Wittfeld, Thomas Wolfers, Margaret J Wright, Jian Xu, Xiufeng Xu, Je-Yeon Yun, JingJing Zhao, Barbara Franke, Paul M Thompson, David C Glahn, Bernard Mazoyer, Simon E Fisher, Clyde Francks
The two hemispheres of the human brain differ functionally and structurally. Despite over a century of research, the extent to which brain asymmetry is influenced by sex, handedness, age, and genetic factors is still controversial. Here we present the largest ever analysis of subcortical brain asymmetries, in a harmonized multi-site study using meta-analysis methods. Volumetric asymmetry of seven subcortical structures was assessed in 15,847 MRI scans from 52 datasets worldwide. There were sex differences in the asymmetry of the globus pallidus and putamen...
October 13, 2016: Brain Imaging and Behavior
https://www.readbyqxmd.com/read/27732578/a-renewed-model-of-pancreatic-cancer-evolution-based-on-genomic-rearrangement-patterns
#5
Faiyaz Notta, Michelle Chan-Seng-Yue, Mathieu Lemire, Yilong Li, Gavin W Wilson, Ashton A Connor, Robert E Denroche, Sheng-Ben Liang, Andrew M K Brown, Jaeseung C Kim, Tao Wang, Jared T Simpson, Timothy Beck, Ayelet Borgida, Nicholas Buchner, Dianne Chadwick, Sara Hafezi-Bakhtiari, John E Dick, Lawrence Heisler, Michael A Hollingsworth, Emin Ibrahimov, Gun Ho Jang, Jeremy Johns, Lars G T Jorgensen, Calvin Law, Olga Ludkovski, Ilinca Lungu, Karen Ng, Danielle Pasternack, Gloria M Petersen, Liran I Shlush, Lee Timms, Ming-Sound Tsao, Julie M Wilson, Christina K Yung, George Zogopoulos, John M S Bartlett, Ludmil B Alexandrov, Francisco X Real, Sean P Cleary, Michael H Roehrl, John D McPherson, Lincoln D Stein, Thomas J Hudson, Peter J Campbell, Steven Gallinger
Pancreatic cancer, a highly aggressive tumour type with uniformly poor prognosis, exemplifies the classically held view of stepwise cancer development. The current model of tumorigenesis, based on analyses of precursor lesions, termed pancreatic intraepithelial neoplasm (PanINs) lesions, makes two predictions: first, that pancreatic cancer develops through a particular sequence of genetic alterations (KRAS, followed by CDKN2A, then TP53 and SMAD4); and second, that the evolutionary trajectory of pancreatic cancer progression is gradual because each alteration is acquired independently...
October 12, 2016: Nature
https://www.readbyqxmd.com/read/27694991/novel-genetic-loci-underlying-human-intracranial-volume-identified-through-genome-wide-association
#6
Hieab H H Adams, Derrek P Hibar, Vincent Chouraki, Jason L Stein, Paul A Nyquist, Miguel E Rentería, Stella Trompet, Alejandro Arias-Vasquez, Sudha Seshadri, Sylvane Desrivières, Ashley H Beecham, Neda Jahanshad, Katharina Wittfeld, Sven J Van der Lee, Lucija Abramovic, Saud Alhusaini, Najaf Amin, Micael Andersson, Konstantinos Arfanakis, Benjamin S Aribisala, Nicola J Armstrong, Lavinia Athanasiu, Tomas Axelsson, Alexa Beiser, Manon Bernard, Joshua C Bis, Laura M E Blanken, Susan H Blanton, Marc M Bohlken, Marco P Boks, Janita Bralten, Adam M Brickman, Owen Carmichael, M Mallar Chakravarty, Ganesh Chauhan, Qiang Chen, Christopher R K Ching, Gabriel Cuellar-Partida, Anouk Den Braber, Nhat Trung Doan, Stefan Ehrlich, Irina Filippi, Tian Ge, Sudheer Giddaluru, Aaron L Goldman, Rebecca F Gottesman, Corina U Greven, Oliver Grimm, Michael E Griswold, Tulio Guadalupe, Johanna Hass, Unn K Haukvik, Saima Hilal, Edith Hofer, David Hoehn, Avram J Holmes, Martine Hoogman, Deborah Janowitz, Tianye Jia, Dalia Kasperaviciute, Sungeun Kim, Marieke Klein, Bernd Kraemer, Phil H Lee, Jiemin Liao, David C M Liewald, Lorna M Lopez, Michelle Luciano, Christine Macare, Andre Marquand, Mar Matarin, Karen A Mather, Manuel Mattheisen, Bernard Mazoyer, David R McKay, Rebekah McWhirter, Yuri Milaneschi, Nazanin Mirza-Schreiber, Ryan L Muetzel, Susana Muñoz Maniega, Kwangsik Nho, Allison C Nugent, Loes M Olde Loohuis, Jaap Oosterlaan, Martina Papmeyer, Irene Pappa, Lukas Pirpamer, Sara Pudas, Benno Pütz, Kumar B Rajan, Adaikalavan Ramasamy, Jennifer S Richards, Shannon L Risacher, Roberto Roiz-Santiañez, Nanda Rommelse, Emma J Rose, Natalie A Royle, Tatjana Rundek, Philipp G Sämann, Claudia L Satizabal, Lianne Schmaal, Andrew J Schork, Li Shen, Jean Shin, Elena Shumskaya, Albert V Smith, Emma Sprooten, Lachlan T Strike, Alexander Teumer, Russell Thomson, Diana Tordesillas-Gutierrez, Roberto Toro, Daniah Trabzuni, Dhananjay Vaidya, Jeroen Van der Grond, Dennis Van der Meer, Marjolein M J Van Donkelaar, Kristel R Van Eijk, Theo G M Van Erp, Daan Van Rooij, Esther Walton, Lars T Westlye, Christopher D Whelan, Beverly G Windham, Anderson M Winkler, Girma Woldehawariat, Christiane Wolf, Thomas Wolfers, Bing Xu, Lisa R Yanek, Jingyun Yang, Alex Zijdenbos, Marcel P Zwiers, Ingrid Agartz, Neelum T Aggarwal, Laura Almasy, David Ames, Philippe Amouyel, Ole A Andreassen, Sampath Arepalli, Amelia A Assareh, Sandra Barral, Mark E Bastin, Diane M Becker, James T Becker, David A Bennett, John Blangero, Hans van Bokhoven, Dorret I Boomsma, Henry Brodaty, Rachel M Brouwer, Han G Brunner, Randy L Buckner, Jan K Buitelaar, Kazima B Bulayeva, Wiepke Cahn, Vince D Calhoun, Dara M Cannon, Gianpiero L Cavalleri, Christopher Chen, Ching-Yu Cheng, Sven Cichon, Mark R Cookson, Aiden Corvin, Benedicto Crespo-Facorro, Joanne E Curran, Michael Czisch, Anders M Dale, Gareth E Davies, Eco J C De Geus, Philip L De Jager, Greig I de Zubicaray, Norman Delanty, Chantal Depondt, Anita L DeStefano, Allissa Dillman, Srdjan Djurovic, Gary Donohoe, Wayne C Drevets, Ravi Duggirala, Thomas D Dyer, Susanne Erk, Thomas Espeseth, Denis A Evans, Iryna O Fedko, Guillén Fernández, Luigi Ferrucci, Simon E Fisher, Debra A Fleischman, Ian Ford, Tatiana M Foroud, Peter T Fox, Clyde Francks, Masaki Fukunaga, J Raphael Gibbs, David C Glahn, Randy L Gollub, Harald H H Göring, Hans J Grabe, Robert C Green, Oliver Gruber, Vilmundur Gudnason, Sebastian Guelfi, Narelle K Hansell, John Hardy, Catharina A Hartman, Ryota Hashimoto, Katrin Hegenscheid, Andreas Heinz, Stephanie Le Hellard, Dena G Hernandez, Dirk J Heslenfeld, Beng-Choon Ho, Pieter J Hoekstra, Wolfgang Hoffmann, Albert Hofman, Florian Holsboer, Georg Homuth, Norbert Hosten, Jouke-Jan Hottenga, Hilleke E Hulshoff Pol, Masashi Ikeda, M Kamran Ikram, Clifford R Jack, Mark Jenkinson, Robert Johnson, Erik G Jönsson, J Wouter Jukema, René S Kahn, Ryota Kanai, Iwona Kloszewska, David S Knopman, Peter Kochunov, John B Kwok, Stephen M Lawrie, Hervé Lemaître, Xinmin Liu, Dan L Longo, W T Longstreth, Oscar L Lopez, Simon Lovestone, Oliver Martinez, Jean-Luc Martinot, Venkata S Mattay, Colm McDonald, Andrew M McIntosh, Katie L McMahon, Francis J McMahon, Patrizia Mecocci, Ingrid Melle, Andreas Meyer-Lindenberg, Sebastian Mohnke, Grant W Montgomery, Derek W Morris, Thomas H Mosley, Thomas W Mühleisen, Bertram Müller-Myhsok, Michael A Nalls, Matthias Nauck, Thomas E Nichols, Wiro J Niessen, Markus M Nöthen, Lars Nyberg, Kazutaka Ohi, Rene L Olvera, Roel A Ophoff, Massimo Pandolfo, Tomas Paus, Zdenka Pausova, Brenda W J H Penninx, G Bruce Pike, Steven G Potkin, Bruce M Psaty, Simone Reppermund, Marcella Rietschel, Joshua L Roffman, Nina Romanczuk-Seiferth, Jerome I Rotter, Mina Ryten, Ralph L Sacco, Perminder S Sachdev, Andrew J Saykin, Reinhold Schmidt, Peter R Schofield, Sigurdur Sigurdsson, Andy Simmons, Andrew Singleton, Sanjay M Sisodiya, Colin Smith, Jordan W Smoller, Hilkka Soininen, Velandai Srikanth, Vidar M Steen, David J Stott, Jessika E Sussmann, Anbupalam Thalamuthu, Henning Tiemeier, Arthur W Toga, Bryan J Traynor, Juan Troncoso, Jessica A Turner, Christophe Tzourio, Andre G Uitterlinden, Maria C Valdés Hernández, Marcel Van der Brug, Aad Van der Lugt, Nic J A Van der Wee, Cornelia M Van Duijn, Neeltje E M Van Haren, Dennis Van T Ent, Marie-Jose Van Tol, Badri N Vardarajan, Dick J Veltman, Meike W Vernooij, Henry Völzke, Henrik Walter, Joanna M Wardlaw, Thomas H Wassink, Michael E Weale, Daniel R Weinberger, Michael W Weiner, Wei Wen, Eric Westman, Tonya White, Tien Y Wong, Clinton B Wright, H Ronald Zielke, Alan B Zonderman, Ian J Deary, Charles DeCarli, Helena Schmidt, Nicholas G Martin, Anton J M De Craen, Margaret J Wright, Lenore J Launer, Gunter Schumann, Myriam Fornage, Barbara Franke, Stéphanie Debette, Sarah E Medland, M Arfan Ikram, Paul M Thompson
Intracranial volume reflects the maximally attained brain size during development, and remains stable with loss of tissue in late life. It is highly heritable, but the underlying genes remain largely undetermined. In a genome-wide association study of 32,438 adults, we discovered five previously unknown loci for intracranial volume and confirmed two known signals. Four of the loci were also associated with adult human stature, but these remained associated with intracranial volume after adjusting for height...
December 2016: Nature Neuroscience
https://www.readbyqxmd.com/read/27640304/evidence-that-the-5p12-variant-rs10941679-confers-susceptibility-to-estrogen-receptor-positive-breast-cancer-through-fgf10-and-mrps30-regulation
#7
Maya Ghoussaini, Juliet D French, Kyriaki Michailidou, Silje Nord, Jonathan Beesley, Sander Canisus, Kristine M Hillman, Susanne Kaufmann, Haran Sivakumaran, Mahdi Moradi Marjaneh, Jason S Lee, Joe Dennis, Manjeet K Bolla, Qin Wang, Ed Dicks, Roger L Milne, John L Hopper, Melissa C Southey, Marjanka K Schmidt, Annegien Broeks, Kenneth Muir, Artitaya Lophatananon, Peter A Fasching, Matthias W Beckmann, Olivia Fletcher, Nichola Johnson, Elinor J Sawyer, Ian Tomlinson, Barbara Burwinkel, Frederik Marme, Pascal Guénel, Thérèse Truong, Stig E Bojesen, Henrik Flyger, Javier Benitez, Anna González-Neira, M Rosario Alonso, Guillermo Pita, Susan L Neuhausen, Hoda Anton-Culver, Hermann Brenner, Volker Arndt, Alfons Meindl, Rita K Schmutzler, Hiltrud Brauch, Ute Hamann, Daniel C Tessier, Daniel Vincent, Heli Nevanlinna, Sofia Khan, Keitaro Matsuo, Hidemi Ito, Thilo Dörk, Natalia V Bogdanova, Annika Lindblom, Sara Margolin, Arto Mannermaa, Veli-Matti Kosma, Anna H Wu, David Van Den Berg, Diether Lambrechts, Giuseppe Floris, Jenny Chang-Claude, Anja Rudolph, Paolo Radice, Monica Barile, Fergus J Couch, Emily Hallberg, Graham G Giles, Christopher A Haiman, Loic Le Marchand, Mark S Goldberg, Soo H Teo, Cheng Har Yip, Anne-Lise Borresen-Dale, Wei Zheng, Qiuyin Cai, Robert Winqvist, Katri Pylkäs, Irene L Andrulis, Peter Devilee, Rob A E M Tollenaar, Montserrat García-Closas, Jonine Figueroa, Per Hall, Kamila Czene, Judith S Brand, Hatef Darabi, Mikael Eriksson, Maartje J Hooning, Linetta B Koppert, Jingmei Li, Xiao-Ou Shu, Ying Zheng, Angela Cox, Simon S Cross, Mitul Shah, Valerie Rhenius, Ji-Yeob Choi, Daehee Kang, Mikael Hartman, Kee Seng Chia, Maria Kabisch, Diana Torres, Craig Luccarini, Don M Conroy, Anna Jakubowska, Jan Lubinski, Suleeporn Sangrajrang, Paul Brennan, Curtis Olswold, Susan Slager, Chen-Yang Shen, Ming-Feng Hou, Anthony Swerdlow, Minouk J Schoemaker, Jacques Simard, Paul D P Pharoah, Vessela Kristensen, Georgia Chenevix-Trench, Douglas F Easton, Alison M Dunning, Stacey L Edwards
Genome-wide association studies (GWASs) have revealed increased breast cancer risk associated with multiple genetic variants at 5p12. Here, we report the fine mapping of this locus using data from 104,660 subjects from 50 case-control studies in the Breast Cancer Association Consortium (BCAC). With data for 3,365 genotyped and imputed SNPs across a 1 Mb region (positions 44,394,495-45,364,167; NCBI build 37), we found evidence for at least three independent signals: the strongest signal, consisting of a single SNP rs10941679, was associated with risk of estrogen-receptor-positive (ER(+)) breast cancer (per-g allele OR ER(+) = 1...
October 6, 2016: American Journal of Human Genetics
https://www.readbyqxmd.com/read/27606344/neurofilament-light-chain-a-biomarker-for-genetic-frontotemporal-dementia
#8
Lieke H Meeter, Elise G Dopper, Lize C Jiskoot, Raquel Sanchez-Valle, Caroline Graff, Luisa Benussi, Roberta Ghidoni, Yolande A Pijnenburg, Barbara Borroni, Daniela Galimberti, Robert Jr Laforce, Mario Masellis, Rik Vandenberghe, Isabelle Le Ber, Markus Otto, Rick van Minkelen, Janne M Papma, Serge A Rombouts, Mircea Balasa, Linn Öijerstedt, Vesna Jelic, Katrina M Dick, David M Cash, Sophie R Harding, M Jorge Cardoso, Sebastien Ourselin, Martin N Rossor, Alessandro Padovani, Elio Scarpini, Chiara Fenoglio, Maria C Tartaglia, Foudil Lamari, Christian Barro, Jens Kuhle, Jonathan D Rohrer, Charlotte E Teunissen, John C van Swieten
OBJECTIVE: To evaluate cerebrospinal fluid (CSF) and serum neurofilament light chain (NfL) levels in genetic frontotemporal dementia (FTD) as a potential biomarker in the presymptomatic stage and during the conversion into the symptomatic stage. Additionally, to correlate NfL levels to clinical and neuroimaging parameters. METHODS: In this multicenter case-control study, we investigated CSF NfL in 174 subjects (48 controls, 40 presymptomatic carriers and 86 patients with microtubule-associated protein tau (MAPT), progranulin (GRN), and chromosome 9 open reading frame 72 (C9orf72) mutations), and serum NfL in 118 subjects (39 controls, 44 presymptomatic carriers, 35 patients)...
August 2016: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/27601976/ts-eurotrain-a-european-wide-investigation-and-training-network-on-the-etiology-and-pathophysiology-of-gilles-de-la-tourette-syndrome
#9
Natalie J Forde, Ahmad S Kanaan, Joanna Widomska, Shanmukha S Padmanabhuni, Ester Nespoli, John Alexander, Juan I Rodriguez Arranz, Siyan Fan, Rayan Houssari, Muhammad S Nawaz, Francesca Rizzo, Luca Pagliaroli, Nuno R Zilhäo, Tamas Aranyi, Csaba Barta, Tobias M Boeckers, Dorret I Boomsma, Wim R Buisman, Jan K Buitelaar, Danielle Cath, Andrea Dietrich, Nicole Driessen, Petros Drineas, Michelle Dunlap, Sarah Gerasch, Jeffrey Glennon, Bastian Hengerer, Odile A van den Heuvel, Cathrine Jespersgaard, Harald E Möller, Kirsten R Müller-Vahl, Thaïra J C Openneer, Geert Poelmans, Petra J W Pouwels, Jeremiah M Scharf, Hreinn Stefansson, Zeynep Tümer, Dick J Veltman, Ysbrand D van der Werf, Pieter J Hoekstra, Andrea Ludolph, Peristera Paschou
Gilles de la Tourette Syndrome (GTS) is characterized by the presence of multiple motor and phonic tics with a fluctuating course of intensity, frequency, and severity. Up to 90% of patients with GTS present with comorbid conditions, most commonly attention-deficit/hyperactivity disorder (ADHD), and obsessive-compulsive disorder (OCD), thus providing an excellent model for the exploration of shared etiology across disorders. TS-EUROTRAIN (FP7-PEOPLE-2012-ITN, Grant Agr.No. 316978) is a Marie Curie Initial Training Network (http://ts-eurotrain...
2016: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/27595995/palb2-chek2-and-atm-rare-variants-and-cancer-risk-data-from-cogs
#10
Melissa C Southey, David E Goldgar, Robert Winqvist, Katri Pylkäs, Fergus Couch, Marc Tischkowitz, William D Foulkes, Joe Dennis, Kyriaki Michailidou, Elizabeth J van Rensburg, Tuomas Heikkinen, Heli Nevanlinna, John L Hopper, Thilo Dörk, Kathleen Bm Claes, Jorge Reis-Filho, Zhi Ling Teo, Paolo Radice, Irene Catucci, Paolo Peterlongo, Helen Tsimiklis, Fabrice A Odefrey, James G Dowty, Marjanka K Schmidt, Annegien Broeks, Frans B Hogervorst, Senno Verhoef, Jane Carpenter, Christine Clarke, Rodney J Scott, Peter A Fasching, Lothar Haeberle, Arif B Ekici, Matthias W Beckmann, Julian Peto, Isabel Dos-Santos-Silva, Olivia Fletcher, Nichola Johnson, Manjeet K Bolla, Elinor J Sawyer, Ian Tomlinson, Michael J Kerin, Nicola Miller, Federik Marme, Barbara Burwinkel, Rongxi Yang, Pascal Guénel, Thérèse Truong, Florence Menegaux, Marie Sanchez, Stig Bojesen, Sune F Nielsen, Henrik Flyger, Javier Benitez, M Pilar Zamora, Jose Ignacio Arias Perez, Primitiva Menéndez, Hoda Anton-Culver, Susan Neuhausen, Argyrios Ziogas, Christina A Clarke, Hermann Brenner, Volker Arndt, Christa Stegmaier, Hiltrud Brauch, Thomas Brüning, Yon-Dschun Ko, Taru A Muranen, Kristiina Aittomäki, Carl Blomqvist, Natalia V Bogdanova, Natalia N Antonenkova, Annika Lindblom, Sara Margolin, Arto Mannermaa, Vesa Kataja, Veli-Matti Kosma, Jaana M Hartikainen, Amanda B Spurdle, kConFab Investigators, Els Wauters, Dominiek Smeets, Benoit Beuselinck, Giuseppe Floris, Jenny Chang-Claude, Anja Rudolph, Petra Seibold, Dieter Flesch-Janys, Janet E Olson, Celine Vachon, Vernon S Pankratz, Catriona McLean, Christopher A Haiman, Brian E Henderson, Fredrick Schumacher, Loic Le Marchand, Vessela Kristensen, Grethe Grenaker Alnæs, Wei Zheng, David J Hunter, Sara Lindstrom, Susan E Hankinson, Peter Kraft, Irene Andrulis, Julia A Knight, Gord Glendon, Anna Marie Mulligan, Arja Jukkola-Vuorinen, Mervi Grip, Saila Kauppila, Peter Devilee, Robert A E M Tollenaar, Caroline Seynaeve, Antoinette Hollestelle, Montserrat Garcia-Closas, Jonine Figueroa, Stephen J Chanock, Jolanta Lissowska, Kamila Czene, Hatef Darabi, Mikael Eriksson, Diana M Eccles, Sajjad Rafiq, William J Tapper, Sue M Gerty, Maartje J Hooning, John W M Martens, J Margriet Collée, Madeleine Tilanus-Linthorst, Per Hall, Jingmei Li, Judith S Brand, Keith Humphreys, Angela Cox, Malcolm W R Reed, Craig Luccarini, Caroline Baynes, Alison M Dunning, Ute Hamann, Diana Torres, Hans Ulrich Ulmer, Thomas Rüdiger, Anna Jakubowska, Jan Lubinski, Katarzyna Jaworska, Katarzyna Durda, Susan Slager, Amanda E Toland, Christine B Ambrosone, Drakoulis Yannoukakos, Anthony Swerdlow, Alan Ashworth, Nick Orr, Michael Jones, Anna González-Neira, Guillermo Pita, M Rosario Alonso, Nuria Álvarez, Daniel Herrero, Daniel C Tessier, Daniel Vincent, Francois Bacot, Jacques Simard, Martine Dumont, Penny Soucy, Rosalind Eeles, Kenneth Muir, Fredrik Wiklund, Henrik Gronberg, Johanna Schleutker, Børge G Nordestgaard, Maren Weischer, Ruth C Travis, David Neal, Jenny L Donovan, Freddie C Hamdy, Kay-Tee Khaw, Janet L Stanford, William J Blot, Stephen Thibodeau, Daniel J Schaid, Joseph L Kelley, Christiane Maier, Adam S Kibel, Cezary Cybulski, Lisa Cannon-Albright, Katja Butterbach, Jong Park, Radka Kaneva, Jyotsna Batra, Manuel R Teixeira, Zsofia Kote-Jarai, Ali Amin Al Olama, Sara Benlloch, Stefan P Renner, Arndt Hartmann, Alexander Hein, Matthias Ruebner, Diether Lambrechts, Els Van Nieuwenhuysen, Ignace Vergote, Sandrina Lambretchs, Jennifer A Doherty, Mary Anne Rossing, Stefan Nickels, Ursula Eilber, Shan Wang-Gohrke, Kunle Odunsi, Lara E Sucheston-Campbell, Grace Friel, Galina Lurie, Jeffrey L Killeen, Lynne R Wilkens, Marc T Goodman, Ingo Runnebaum, Peter A Hillemanns, Liisa M Pelttari, Ralf Butzow, Francesmary Modugno, Robert P Edwards, Roberta B Ness, Kirsten B Moysich, Andreas du Bois, Florian Heitz, Philipp Harter, Stefan Kommoss, Beth Y Karlan, Christine Walsh, Jenny Lester, Allan Jensen, Susanne Krüger Kjaer, Estrid Høgdall, Bernard Peissel, Bernardo Bonanni, Loris Bernard, Ellen L Goode, Brooke L Fridley, Robert A Vierkant, Julie M Cunningham, Melissa C Larson, Zachary C Fogarty, Kimberly R Kalli, Dong Liang, Karen H Lu, Michelle A T Hildebrandt, Xifeng Wu, Douglas A Levine, Fanny Dao, Maria Bisogna, Andrew Berchuck, Edwin S Iversen, Jeffrey R Marks, Lucy Akushevich, Daniel W Cramer, Joellen Schildkraut, Kathryn L Terry, Elizabeth M Poole, Meir Stampfer, Shelley S Tworoger, Elisa V Bandera, Irene Orlow, Sara H Olson, Line Bjorge, Helga B Salvesen, Anne M van Altena, Katja K H Aben, Lambertus A Kiemeney, Leon F A G Massuger, Tanja Pejovic, Yukie Bean, Angela Brooks-Wilson, Linda E Kelemen, Linda S Cook, Nhu D Le, Bohdan Górski, Jacek Gronwald, Janusz Menkiszak, Claus K Høgdall, Lene Lundvall, Lotte Nedergaard, Svend Aage Engelholm, Ed Dicks, Jonathan Tyrer, Ian Campbell, Iain McNeish, James Paul, Nadeem Siddiqui, Rosalind Glasspool, Alice S Whittemore, Joseph H Rothstein, Valerie McGuire, Weiva Sieh, Hui Cai, Xiao-Ou Shu, Rachel T Teten, Rebecca Sutphen, John R McLaughlin, Steven A Narod, Catherine M Phelan, Alvaro N Monteiro, David Fenstermacher, Hui-Yi Lin, Jennifer B Permuth, Thomas A Sellers, Y Ann Chen, Ya-Yu Tsai, Zhihua Chen, Aleksandra Gentry-Maharaj, Simon A Gayther, Susan J Ramus, Usha Menon, Anna H Wu, Celeste L Pearce, David Van Den Berg, Malcolm C Pike, Agnieszka Dansonka-Mieszkowska, Joanna Plisiecka-Halasa, Joanna Moes-Sosnowska, Jolanta Kupryjanczyk, Paul Dp Pharoah, Honglin Song, Ingrid Winship, Georgia Chenevix-Trench, Graham G Giles, Sean V Tavtigian, Doug F Easton, Roger L Milne
BACKGROUND: The rarity of mutations in PALB2, CHEK2 and ATM make it difficult to estimate precisely associated cancer risks. Population-based family studies have provided evidence that at least some of these mutations are associated with breast cancer risk as high as those associated with rare BRCA2 mutations. We aimed to estimate the relative risks associated with specific rare variants in PALB2, CHEK2 and ATM via a multicentre case-control study. METHODS: We genotyped 10 rare mutations using the custom iCOGS array: PALB2 c...
December 2016: Journal of Medical Genetics
https://www.readbyqxmd.com/read/27533245/assessment-of-variation-in-immunosuppressive-pathway-genes-reveals-tgfbr2-to-be-associated-with-risk-of-clear-cell-ovarian-cancer
#11
Shalaka S Hampras, Lara E Sucheston-Campbell, Rikki Cannioto, Jenny Chang-Claude, Francesmary Modugno, Thilo Dörk, Peter Hillemanns, Leah Preus, Keith L Knutson, Paul K Wallace, Chi-Chen Hong, Grace Friel, Warren Davis, Mary Nesline, Celeste L Pearce, Linda E Kelemen, Marc T Goodman, Elisa V Bandera, Kathryn L Terry, Nils Schoof, Kevin H Eng, Alyssa Clay, Prashant K Singh, Janine M Joseph, Katja K H Aben, Hoda Anton-Culver, Natalia Antonenkova, Helen Baker, Yukie Bean, Matthias W Beckmann, Maria Bisogna, Line Bjorge, Natalia Bogdanova, Louise A Brinton, Angela Brooks-Wilson, Fiona Bruinsma, Ralf Butzow, Ian G Campbell, Karen Carty, Linda S Cook, Daniel W Cramer, Cezary Cybulski, Agnieszka Dansonka-Mieszkowska, Joe Dennis, Evelyn Despierre, Ed Dicks, Jennifer A Doherty, Andreas du Bois, Matthias Dürst, Doug Easton, Diana Eccles, Robert P Edwards, Arif B Ekici, Peter A Fasching, Brooke L Fridley, Yu-Tang Gao, Aleksandra Gentry-Maharaj, Graham G Giles, Rosalind Glasspool, Jacek Gronwald, Patricia Harrington, Philipp Harter, Hanis Nazihah Hasmad, Alexander Hein, Florian Heitz, Michelle A T Hildebrandt, Claus Hogdall, Estrid Hogdall, Satoyo Hosono, Edwin S Iversen, Anna Jakubowska, Allan Jensen, Bu-Tian Ji, Beth Y Karlan, Melissa Kellar, Joseph L Kelley, Lambertus A Kiemeney, Rüdiger Klapdor, Nonna Kolomeyevskaya, Camilla Krakstad, Susanne K Kjaer, Bridget Kruszka, Jolanta Kupryjanczyk, Diether Lambrechts, Sandrina Lambrechts, Nhu D Le, Alice W Lee, Shashikant Lele, Arto Leminen, Jenny Lester, Douglas A Levine, Dong Liang, Jolanta Lissowska, Song Liu, Karen Lu, Jan Lubinski, Lene Lundvall, Leon F A G Massuger, Keitaro Matsuo, Valeria McGuire, John R McLaughlin, Ian McNeish, Usha Menon, Joanna Moes-Sosnowska, Steven A Narod, Lotte Nedergaard, Heli Nevanlinna, Stefan Nickels, Sara H Olson, Irene Orlow, Rachel Palmieri Weber, James Paul, Tanja Pejovic, Liisa M Pelttari, Barbara Perkins, Jenny Permuth-Wey, Malcolm C Pike, Joanna Plisiecka-Halasa, Elizabeth M Poole, Harvey A Risch, Mary Anne Rossing, Joseph H Rothstein, Anja Rudolph, Ingo B Runnebaum, Iwona K Rzepecka, Helga B Salvesen, Eva Schernhammer, Kristina Schmitt, Ira Schwaab, Xiao-Ou Shu, Yurii B Shvetsov, Nadeem Siddiqui, Weiva Sieh, Honglin Song, Melissa C Southey, Ingvild L Tangen, Soo-Hwang Teo, Pamela J Thompson, Agnieszka Timorek, Ya-Yu Tsai, Shelley S Tworoger, Jonathan Tyrer, Anna M van Altena, Ignace Vergote, Robert A Vierkant, Christine Walsh, Shan Wang-Gohrke, Nicolas Wentzensen, Alice S Whittemore, Kristine G Wicklund, Lynne R Wilkens, Anna H Wu, Xifeng Wu, Yin-Ling Woo, Hannah Yang, Wei Zheng, Argyrios Ziogas, Simon A Gayther, Susan J Ramus, Thomas A Sellers, Joellen M Schildkraut, Catherine M Phelan, Andrew Berchuck, Georgia Chenevix-Trench, Julie M Cunningham, Paul P Pharoah, Roberta B Ness, Kunle Odunsi, Ellen L Goode, Kirsten B Moysich
BACKGROUND: Regulatory T (Treg) cells, a subset of CD4+ T lymphocytes, are mediators of immunosuppression in cancer, and, thus, variants in genes encoding Treg cell immune molecules could be associated with ovarian cancer. METHODS: In a population of 15,596 epithelial ovarian cancer (EOC) cases and 23,236 controls, we measured genetic associations of 1,351 SNPs in Treg cell pathway genes with odds of ovarian cancer and tested pathway and gene-level associations, overall and by histotype, for the 25 genes, using the admixture likelihood (AML) method...
June 21, 2016: Oncotarget
https://www.readbyqxmd.com/read/27491796/trpv4-mediates-afferent-pathways-in-the-urinary-bladder-a-spinal-c-fos-study-showing-trpv1-related-adaptations-in-the-trpv4-knockout-mouse
#12
Dick A W Janssen, Joost G Hoenderop, John P F A Heesakkers, Jack A Schalken
The role of transient receptor potential vanilloid subtype 4 (TRPV4) channels in urinary bladder afferent neural pathways was investigated using spinal c-fos measurements in mice. Anesthetized wild type and TRPV4 knockout (-/-) mice underwent noxious bladder distention and treatment with either intravesical instillation with lipopolysaccharide (LPS), or the TRPV1 agonist resiniferatoxin (RTX), vehicle or an intraperitoneal injected TRPV4 antagonist (HC067047). Mice underwent paraformaldehyde perfusion for rapid fixation and L6-S1 spinal cord sections were removed followed by immunohistochemical staining for c-fos...
October 2016: Pflügers Archiv: European Journal of Physiology
https://www.readbyqxmd.com/read/27436574/the-abrupt-onset-of-the-modern-south-asian-monsoon-winds
#13
Christian Betzler, Gregor P Eberli, Dick Kroon, James D Wright, Peter K Swart, Bejugam Nagender Nath, Carlos A Alvarez-Zarikian, Montserrat Alonso-García, Or M Bialik, Clara L Blättler, Junhua Adam Guo, Sébastien Haffen, Senay Horozal, Mayuri Inoue, Luigi Jovane, Luca Lanci, Juan Carlos Laya, Anna Ling Hui Mee, Thomas Lüdmann, Masatoshi Nakakuni, Kaoru Niino, Loren M Petruny, Santi D Pratiwi, John J G Reijmer, Jesús Reolid, Angela L Slagle, Craig R Sloss, Xiang Su, Zhengquan Yao, Jeremy R Young
The South Asian Monson (SAM) is one of the most intense climatic elements yet its initiation and variations are not well established. Dating the deposits of SAM wind-driven currents in IODP cores from the Maldives yields an age of 12. 9 Ma indicating an abrupt SAM onset, over a short period of 300 kyrs. This coincided with the Indian Ocean Oxygen Minimum Zone expansion as revealed by geochemical tracers and the onset of upwelling reflected by the sediment's content of particulate organic matter. A weaker 'proto-monsoon' existed between 12...
2016: Scientific Reports
https://www.readbyqxmd.com/read/27424784/ectopic-mir-125a-expression-induces-long-term-repopulating-stem-cell-capacity-in-mouse-and-human-hematopoietic-progenitors
#14
Edyta E Wojtowicz, Eric R Lechman, Karin G Hermans, Erwin M Schoof, Erno Wienholds, Ruth Isserlin, Peter A van Veelen, Mathilde J C Broekhuis, George M C Janssen, Aaron Trotman-Grant, Stephanie M Dobson, Gabriela Krivdova, Jantje Elzinga, James Kennedy, Olga I Gan, Ankit Sinha, Vladimir Ignatchenko, Thomas Kislinger, Bertien Dethmers-Ausema, Ellen Weersing, Mir Farshid Alemdehy, Hans W J de Looper, Gary D Bader, Martha Ritsema, Stefan J Erkeland, Leonid V Bystrykh, John E Dick, Gerald de Haan
Umbilical cord blood (CB) is a convenient and broadly used source of hematopoietic stem cells (HSCs) for allogeneic stem cell transplantation. However, limiting numbers of HSCs remain a major constraint for its clinical application. Although one feasible option would be to expand HSCs to improve therapeutic outcome, available protocols and the molecular mechanisms governing the self-renewal of HSCs are unclear. Here, we show that ectopic expression of a single microRNA (miRNA), miR-125a, in purified murine and human multipotent progenitors (MPPs) resulted in increased self-renewal and robust long-term multi-lineage repopulation in transplanted recipient mice...
September 1, 2016: Cell Stem Cell
https://www.readbyqxmd.com/read/27300437/mirna-126-orchestrates-an-oncogenic-program-in-b-cell-precursor-acute-lymphoblastic-leukemia
#15
Silvia Nucera, Alice Giustacchini, Francesco Boccalatte, Andrea Calabria, Cristiana Fanciullo, Tiziana Plati, Anna Ranghetti, Jose Garcia-Manteiga, Davide Cittaro, Fabrizio Benedicenti, Eric R Lechman, John E Dick, Maurilio Ponzoni, Fabio Ciceri, Eugenio Montini, Bernhard Gentner, Luigi Naldini
MicroRNA (miRNA)-126 is a known regulator of hematopoietic stem cell quiescence. We engineered murine hematopoiesis to express miRNA-126 across all differentiation stages. Thirty percent of mice developed monoclonal B cell leukemia, which was prevented or regressed when a tetracycline-repressible miRNA-126 cassette was switched off. Regression was accompanied by upregulation of cell-cycle regulators and B cell differentiation genes, and downregulation of oncogenic signaling pathways. Expression of dominant-negative p53 delayed blast clearance upon miRNA-126 switch-off, highlighting the relevance of p53 inhibition in miRNA-126 addiction...
June 13, 2016: Cancer Cell
https://www.readbyqxmd.com/read/27262398/integrated-chemical-and-biological-assessment-of-contaminant-impacts-in-selected-european-coastal-and-offshore-marine-areas
#16
Ketil Hylland, Craig D Robinson, Thierry Burgeot, Concepción Martínez-Gómez, Thomas Lang, Jörundur Svavarsson, John E Thain, A Dick Vethaak, Mattew J Gubbins
This paper reports a full assessment of results from ICON, an international workshop on marine integrated contaminant monitoring, encompassing different matrices (sediment, fish, mussels, gastropods), areas (Iceland, North Sea, Baltic, Wadden Sea, Seine estuary and the western Mediterranean) and endpoints (chemical analyses, biological effects). ICON has demonstrated the use of a framework for integrated contaminant assessment on European coastal and offshore areas. The assessment showed that chemical contamination did not always correspond with biological effects, indicating that both are required...
May 18, 2016: Marine Environmental Research
https://www.readbyqxmd.com/read/27112302/assessment-of-contaminant-concentrations-in-sediments-fish-and-mussels-sampled-from-the-north-atlantic-and-european-regional-seas-within-the-icon-project
#17
Craig D Robinson, Lynda Webster, Concepción Martínez-Gómez, Thierry Burgeot, Matthew J Gubbins, John E Thain, A Dick Vethaak, Alistair D McIntosh, Ketil Hylland
Understanding the status of contaminants in the marine environment is a requirement of European Union Directives and the Regional Seas Conventions, so that measures to reduce pollution can be identified and their efficacy assessed. The international ICON workshop (Hylland et al., in this issue) was developed in order to test an integrated approach to assessing both contaminant concentrations and their effects. This paper describes and assesses the concentrations of trace metals, polycyclic aromatic hydrocarbons, and polychlorinated biphenyls in sediments, mussels, and fish collected from estuarine, coastal and offshore waters from Iceland to the Mediterranean Sea...
April 5, 2016: Marine Environmental Research
https://www.readbyqxmd.com/read/27070706/mir-126-regulates-distinct-self-renewal-outcomes-in-normal-and-malignant-hematopoietic-stem-cells
#18
Eric R Lechman, Bernhard Gentner, Stanley W K Ng, Erwin M Schoof, Peter van Galen, James A Kennedy, Silvia Nucera, Fabio Ciceri, Kerstin B Kaufmann, Naoya Takayama, Stephanie M Dobson, Aaron Trotman-Grant, Gabriela Krivdova, Janneke Elzinga, Amanda Mitchell, Björn Nilsson, Karin G Hermans, Kolja Eppert, Rene Marke, Ruth Isserlin, Veronique Voisin, Gary D Bader, Peter W Zandstra, Todd R Golub, Benjamin L Ebert, Jun Lu, Mark Minden, Jean C Y Wang, Luigi Naldini, John E Dick
No abstract text is available yet for this article.
April 11, 2016: Cancer Cell
https://www.readbyqxmd.com/read/26928228/breast-cancer-risk-variants-at-6q25-display-different-phenotype-associations-and-regulate-esr1-rmnd1-and-ccdc170
#19
Alison M Dunning, Kyriaki Michailidou, Karoline B Kuchenbaecker, Deborah Thompson, Juliet D French, Jonathan Beesley, Catherine S Healey, Siddhartha Kar, Karen A Pooley, Elena Lopez-Knowles, Ed Dicks, Daniel Barrowdale, Nicholas A Sinnott-Armstrong, Richard C Sallari, Kristine M Hillman, Susanne Kaufmann, Haran Sivakumaran, Mahdi Moradi Marjaneh, Jason S Lee, Margaret Hills, Monika Jarosz, Suzie Drury, Sander Canisius, Manjeet K Bolla, Joe Dennis, Qin Wang, John L Hopper, Melissa C Southey, Annegien Broeks, Marjanka K Schmidt, Artitaya Lophatananon, Kenneth Muir, Matthias W Beckmann, Peter A Fasching, Isabel Dos-Santos-Silva, Julian Peto, Elinor J Sawyer, Ian Tomlinson, Barbara Burwinkel, Frederik Marme, Pascal Guénel, Thérèse Truong, Stig E Bojesen, Henrik Flyger, Anna González-Neira, Jose I A Perez, Hoda Anton-Culver, Lee Eunjung, Volker Arndt, Hermann Brenner, Alfons Meindl, Rita K Schmutzler, Hiltrud Brauch, Ute Hamann, Kristiina Aittomäki, Carl Blomqvist, Hidemi Ito, Keitaro Matsuo, Natasha Bogdanova, Thilo Dörk, Annika Lindblom, Sara Margolin, Veli-Matti Kosma, Arto Mannermaa, Chiu-Chen Tseng, Anna H Wu, Diether Lambrechts, Hans Wildiers, Jenny Chang-Claude, Anja Rudolph, Paolo Peterlongo, Paolo Radice, Janet E Olson, Graham G Giles, Roger L Milne, Christopher A Haiman, Brian E Henderson, Mark S Goldberg, Soo H Teo, Cheng Har Yip, Silje Nord, Anne-Lise Borresen-Dale, Vessela Kristensen, Jirong Long, Wei Zheng, Katri Pylkäs, Robert Winqvist, Irene L Andrulis, Julia A Knight, Peter Devilee, Caroline Seynaeve, Jonine Figueroa, Mark E Sherman, Kamila Czene, Hatef Darabi, Antoinette Hollestelle, Ans M W van den Ouweland, Keith Humphreys, Yu-Tang Gao, Xiao-Ou Shu, Angela Cox, Simon S Cross, William Blot, Qiuyin Cai, Maya Ghoussaini, Barbara J Perkins, Mitul Shah, Ji-Yeob Choi, Daehee Kang, Soo Chin Lee, Mikael Hartman, Maria Kabisch, Diana Torres, Anna Jakubowska, Jan Lubinski, Paul Brennan, Suleeporn Sangrajrang, Christine B Ambrosone, Amanda E Toland, Chen-Yang Shen, Pei-Ei Wu, Nick Orr, Anthony Swerdlow, Lesley McGuffog, Sue Healey, Andrew Lee, Miroslav Kapuscinski, Esther M John, Mary Beth Terry, Mary B Daly, David E Goldgar, Saundra S Buys, Ramunas Janavicius, Laima Tihomirova, Nadine Tung, Cecilia M Dorfling, Elizabeth J van Rensburg, Susan L Neuhausen, Bent Ejlertsen, Thomas V O Hansen, Ana Osorio, Javier Benitez, Rachel Rando, Jeffrey N Weitzel, Bernardo Bonanni, Bernard Peissel, Siranoush Manoukian, Laura Papi, Laura Ottini, Irene Konstantopoulou, Paraskevi Apostolou, Judy Garber, Muhammad Usman Rashid, Debra Frost, Louise Izatt, Steve Ellis, Andrew K Godwin, Norbert Arnold, Dieter Niederacher, Kerstin Rhiem, Nadja Bogdanova-Markov, Charlotte Sagne, Dominique Stoppa-Lyonnet, Francesca Damiola, Olga M Sinilnikova, Sylvie Mazoyer, Claudine Isaacs, Kathleen B M Claes, Kim De Leeneer, Miguel de la Hoya, Trinidad Caldes, Heli Nevanlinna, Sofia Khan, Arjen R Mensenkamp, Maartje J Hooning, Matti A Rookus, Ava Kwong, Edith Olah, Orland Diez, Joan Brunet, Miquel Angel Pujana, Jacek Gronwald, Tomasz Huzarski, Rosa B Barkardottir, Rachel Laframboise, Penny Soucy, Marco Montagna, Simona Agata, Manuel R Teixeira, Sue Kyung Park, Noralane Lindor, Fergus J Couch, Marc Tischkowitz, Lenka Foretova, Joseph Vijai, Kenneth Offit, Christian F Singer, Christine Rappaport, Catherine M Phelan, Mark H Greene, Phuong L Mai, Gad Rennert, Evgeny N Imyanitov, Peter J Hulick, Kelly-Anne Phillips, Marion Piedmonte, Anna Marie Mulligan, Gord Glendon, Anders Bojesen, Mads Thomassen, Maria A Caligo, Sook-Yee Yoon, Eitan Friedman, Yael Laitman, Ake Borg, Anna von Wachenfeldt, Hans Ehrencrona, Johanna Rantala, Olufunmilayo I Olopade, Patricia A Ganz, Robert L Nussbaum, Simon A Gayther, Katherine L Nathanson, Susan M Domchek, Banu K Arun, Gillian Mitchell, Beth Y Karlan, Jenny Lester, Gertraud Maskarinec, Christy Woolcott, Christopher Scott, Jennifer Stone, Carmel Apicella, Rulla Tamimi, Robert Luben, Kay-Tee Khaw, Åslaug Helland, Vilde Haakensen, Mitch Dowsett, Paul D P Pharoah, Jacques Simard, Per Hall, Montserrat García-Closas, Celine Vachon, Georgia Chenevix-Trench, Antonis C Antoniou, Douglas F Easton, Stacey L Edwards
We analyzed 3,872 common genetic variants across the ESR1 locus (encoding estrogen receptor α) in 118,816 subjects from three international consortia. We found evidence for at least five independent causal variants, each associated with different phenotype sets, including estrogen receptor (ER(+) or ER(-)) and human ERBB2 (HER2(+) or HER2(-)) tumor subtypes, mammographic density and tumor grade. The best candidate causal variants for ER(-) tumors lie in four separate enhancer elements, and their risk alleles reduce expression of ESR1, RMND1 and CCDC170, whereas the risk alleles of the strongest candidates for the remaining independent causal variant disrupt a silencer element and putatively increase ESR1 and RMND1 expression...
April 2016: Nature Genetics
https://www.readbyqxmd.com/read/26859458/truncating-erythropoietin-receptor-rearrangements-in-acute-lymphoblastic-leukemia
#20
Ilaria Iacobucci, Yongjin Li, Kathryn G Roberts, Stephanie M Dobson, Jaeseung C Kim, Debbie Payne-Turner, Richard C Harvey, Marcus Valentine, Kelly McCastlain, John Easton, Donald Yergeau, Laura J Janke, Ying Shao, I-Ming L Chen, Michael Rusch, Sasan Zandi, Steven M Kornblau, Marina Konopleva, Elias Jabbour, Elisabeth M Paietta, Jacob M Rowe, Ching-Hon Pui, Julie Gastier-Foster, Zhaohui Gu, Shalini Reshmi, Mignon L Loh, Janis Racevskis, Martin S Tallman, Peter H Wiernik, Mark R Litzow, Cheryl L Willman, John D McPherson, James R Downing, Jinghui Zhang, John E Dick, Stephen P Hunger, Charles G Mullighan
Chromosomal rearrangements are a hallmark of acute lymphoblastic leukemia (ALL) and are important ALL initiating events. We describe four different rearrangements of the erythropoietin receptor gene EPOR in Philadelphia chromosome-like (Ph-like) ALL. All of these rearrangements result in truncation of the cytoplasmic tail of EPOR at residues similar to those mutated in primary familial congenital polycythemia, with preservation of the proximal tyrosine essential for receptor activation and loss of distal regulatory residues...
February 8, 2016: Cancer Cell
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